Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs763982675
rs763982675
1 1.000 0.160 7 138747514 missense variant C/A;T snv 8.0E-05 0.700 1.000 2 2016 2016
dbSNP: rs121912753
rs121912753
5 0.827 0.200 17 44251583 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs267606671
rs267606671
1 1.000 0.160 7 138706689 missense variant C/G;T snv 4.0E-06; 5.2E-05 0.700 0
dbSNP: rs587776615
rs587776615
1 1.000 0.160 7 138734135 splice donor variant C/T snv 1.2E-05 0.700 0
dbSNP: rs587776616
rs587776616
1 1.000 0.160 7 138771143 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs587776617
rs587776617
1 1.000 0.160 7 138762435 splice acceptor variant C/T snv 0.700 0
dbSNP: rs121908368
rs121908368
1 1.000 0.160 7 138739541 missense variant G/A snv 2.0E-05 7.0E-06 0.700 1.000 2 2000 2002
dbSNP: rs1443883930
rs1443883930
1 1.000 0.160 7 138745255 missense variant C/T snv 1.2E-05 7.0E-06 0.800 1.000 3 2000 2018
dbSNP: rs28939081
rs28939081
2 0.925 0.280 7 138709633 missense variant C/T snv 4.0E-05 7.0E-06 0.700 1.000 2 2000 2002
dbSNP: rs121908367
rs121908367
1 1.000 0.160 7 138715764 stop gained G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs121912748
rs121912748
9 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.020 1.000 2 2003 2019
dbSNP: rs754517968
rs754517968
1 1.000 0.160 7 138709745 stop gained G/A snv 4.0E-05 2.1E-05 0.700 1.000 2 2006 2011
dbSNP: rs114234874
rs114234874
3 0.882 0.200 2 70959974 missense variant G/A snv 3.0E-02 2.6E-02 0.010 1.000 1 2016 2016